Nle1^l11Jus1
Chemically induced Allele Detail

Summary

• Symbol: Nle1^l11Jus1
• Name: notchless homolog 1; lethal, Chr 11, Justice 1
• MGI ID: MGI:2671871
• Synonyms: l11Jus01
• Gene: Nle1 Location: Chr11:82791594-82799237 bp, - strand Genetic Position: Chr11, 50.3 cM
• Alliance: Nle1^l11Jus1 page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Mutagenesis for Dev. Defects

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Nucleotide substitutions
• Mutation details: This phenotypic mutant was identified in an ENU mutagenesis screen at the Baylor College of Medicine. The molecular lesion is a c.1187T>G transversion mutation (p.I396S change in the encoded protein) in l11Jus1 heterozygotes in exon 10. This non-conservative substitution replaces an aliphatic, hydrophobic amino acid with a polar residue, which likely disrupts functionality. In addition, an endogenous C57BL/6J non-synonymous SNP rs13468707 (c.538A>G transition; p.I180V) is present in exon 6. This is the equivalent of well-documented human SNP rs2820949 and leads to a very conservative amino acid substitution. Thus, l11Jus1 homozygotes harbor two coding changes in this gene: an ENU-induced point mutation and an additional spontaneous missense mutation that is also present in the C57BL/6J parent strain. (J:193532)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Nle1 Mutation: 27 strains or lines available

References

• Original: J:85113 Kile BT, et al., Functional genetic analysis of mouse chromosome 11. Nature. 2003 Sep 4;425(6953):81-6
• All: 3 reference(s)